Deutsch
IllnessEctopia-Lentis syndrome, differential diagnosis
Summary
Short information
A comprehensive differential diagnostic panel containing 4 or altogether 7 curated genes according to the clinical suspicion Ectopia-lentis syndrome
ID
EP0530
Number of genes
4
Accredited laboratory test
Examined sequence length
11,9 kb (Core-/Core-canditate-Genes)
16,8 kb (Extended panel: incl. additional genes)
16,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS + Sanger
Gene panel
Informations about the disease
Clinical Comment
Variable eye disorder with dislocation of lens, often causing significant reduction in visual acuity
Synonyms
- Abnormal stretching of zonular fibers, lens dislocation, visual impairment
- Allelic: Acromicric dysplasia (FBN1)
- Allelic: Geleophysic dysplasia 2 (FBN1)
- Allelic: Glaucoma 3, primary congenital, D (LTBP2)
- Allelic: MASS syndrome (FBN1)
- Allelic: Marfan lipodystrophy syndrome (FBN1)
- Allelic: Marfan syndrome (FBN1)
- Allelic: Stiff skin syndrome (FBN1)
- Allelic: Weill-Marchesani syndrome 2, dominant (FBN1)
- Ectopia lentis et pupillae (ADAMTSL4)
- Ectopia lentis syndrome (FBN1)
- Ectopia lentis, isolated, autosomal recessive (ADAMTSL4)
- Familial ectopia lentis (FBN1)
- Homocystinuria, B6-responsive + nonresponsive types (CBS)
- Hyperlysinemia (AASS)
- Isolated ectopia lentis (FBN1)
- Marfan + Shprintzen-Goldberg syndrome, craniosynostosis, mental retardation (FBN1)
- Microspherophakia and/or megalocornea, with ectopia lentis with/-out secondary glaucoma (LTBP2)
- Sulfite oxidase deficiency (SUOX)
- Thrombosis, hyperhomocysteinemic (CBS)
- Weill-Marchesani syndrome 3, AR (LTBP2)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q12.1
Bioinformatics and clinical interpretation
No text defined